{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1576662",
  "communityStandardTitle": [
    "NM_001034116.2(EIF2B4):c.1069C>T (p.Arg357Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6290396",
        "active": true,
        "id": "COSM6290396"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6290397",
        "active": true,
        "id": "COSM6290397"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1925260[alleleid]",
        "alleleId": 1925260,
        "preferredName": "NM_001034116.2(EIF2B4):c.1069C>T (p.Arg357Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203030",
        "RCV": [
          "RCV002651446"
        ],
        "variationId": 2203030
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-27589748-G-A",
        "id": "2-27589748-G-A",
        "variant": "2:27589748 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27589748G>A?assembly=hg19",
        "id": "chr2:g.27589748G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27366881G>A?assembly=hg38",
        "id": "chr2:g.27366881G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994032",
        "rs": 113994032
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27589748-G-A?dataset=gnomad_r2_1",
        "id": "2-27589748-G-A",
        "variant": "2:27589748 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27366881-G-A?dataset=gnomad_r3",
        "id": "2-27366881-G-A",
        "variant": "2:27366881 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27366881-G-A?dataset=gnomad_r4",
        "id": "2-27366881-G-A",
        "variant": "2:27366881 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 27366881,
          "referenceAllele": "G",
          "start": 27366880
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27366881G>A",
        "CM000664.2:g.27366881G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 27589748,
          "referenceAllele": "G",
          "start": 27589747
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27589748G>A",
        "CM000664.1:g.27589748G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 27443252,
          "referenceAllele": "G",
          "start": 27443251
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27443252G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8577,
          "referenceAllele": "C",
          "start": 8576
        }
      ],
      "hgvs": [
        "NG_009305.1:g.8577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000347454.9:c.1069C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233552.6:p.Arg357Trp",
        "hgvsWellDefined": "ENSP00000233552.6:p.Arg357Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347454.9:c.1069C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001034116.2:c.1069C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233552.6:p.Arg357Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001029288.1:p.Arg357Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000347454.8:c.1069C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233552.5:p.Arg357Trp",
        "hgvsWellDefined": "ENSP00000233552.5:p.Arg357Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000405940.6:c.*335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384375.2:n.*335C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "referenceAllele": "C",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000417567.1:c.643C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000445933.6:c.1066C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394397.2:p.Arg356Trp",
        "hgvsWellDefined": "ENSP00000394397.2:p.Arg356Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000451130.6:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394869.2:p.Arg377Trp",
        "hgvsWellDefined": "ENSP00000394869.2:p.Arg377Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2970,
          "referenceAllele": "C",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000475582.5:n.2970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000493344.6:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429323.1:p.Arg378Trp",
        "hgvsWellDefined": "ENSP00000429323.1:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000616081.4:c.1060C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477710.1:p.Arg354Trp",
        "hgvsWellDefined": "ENSP00000477710.1:p.Arg354Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000622434.4:c.*335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479991.1:n.*335C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825375313",
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001034116.1:c.1069C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029288.1:p.Arg357Trp",
        "hgvsWellDefined": "NP_001029288.1:p.Arg357Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829837291",
      "coordinates": [
        {
          "allele": "T",
          "end": 1209,
          "referenceAllele": "C",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_015636.3:c.1066C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056451.3:p.Arg356Trp",
        "hgvsWellDefined": "NP_056451.3:p.Arg356Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830348509",
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_172195.3:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Arg377Trp",
        "hgvsWellDefined": "NP_751945.2:p.Arg377Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_005264632.1:c.1024C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264689.1:p.Arg342Trp",
        "hgvsWellDefined": "XP_005264689.1:p.Arg342Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_006712132.1:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712195.1:p.Arg341Trp",
        "hgvsWellDefined": "XP_006712195.1:p.Arg341Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_011533147.1:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531449.1:p.Arg151Trp",
        "hgvsWellDefined": "XP_011531449.1:p.Arg151Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "endIntronDirection": "-",
          "endIntronOffset": 542,
          "referenceAllele": "G",
          "start": 1771,
          "startIntronDirection": "-",
          "startIntronOffset": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055699",
      "geneNCBI_id": 105374363,
      "geneSymbol": "GTF3C2-AS2",
      "hgvs": [
        "XR_939868.1:n.1772-543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580204758",
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318965.1:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305894.1:p.Arg378Trp",
        "hgvsWellDefined": "NP_001305894.1:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827025938",
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318966.1:c.1024C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305895.1:p.Arg342Trp",
        "hgvsWellDefined": "NP_001305895.1:p.Arg342Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026169",
      "coordinates": [
        {
          "allele": "T",
          "end": 1205,
          "referenceAllele": "C",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318967.1:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305896.1:p.Arg326Trp",
        "hgvsWellDefined": "NP_001305896.1:p.Arg326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026303",
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318968.1:c.484C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305897.1:p.Arg162Trp",
        "hgvsWellDefined": "NP_001305897.1:p.Arg162Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026446",
      "coordinates": [
        {
          "allele": "T",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318969.1:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305898.1:p.Arg151Trp",
        "hgvsWellDefined": "NP_001305898.1:p.Arg151Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_011533147.2:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531449.1:p.Arg151Trp",
        "hgvsWellDefined": "XP_011531449.1:p.Arg151Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825375313",
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001034116.2:c.1069C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029288.1:p.Arg357Trp",
        "hgvsWellDefined": "NP_001029288.1:p.Arg357Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347454.9:c.1069C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001034116.2:c.1069C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233552.6:p.Arg357Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001029288.1:p.Arg357Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580204758",
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318965.2:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305894.1:p.Arg378Trp",
        "hgvsWellDefined": "NP_001305894.1:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827025938",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318966.2:c.1024C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305895.1:p.Arg342Trp",
        "hgvsWellDefined": "NP_001305895.1:p.Arg342Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026169",
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318967.2:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305896.1:p.Arg326Trp",
        "hgvsWellDefined": "NP_001305896.1:p.Arg326Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026303",
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318968.2:c.484C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305897.1:p.Arg162Trp",
        "hgvsWellDefined": "NP_001305897.1:p.Arg162Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026446",
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318969.2:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305898.1:p.Arg151Trp",
        "hgvsWellDefined": "NP_001305898.1:p.Arg151Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829837291",
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "C",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_015636.4:c.1066C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056451.3:p.Arg356Trp",
        "hgvsWellDefined": "NP_056451.3:p.Arg356Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830348509",
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_172195.4:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Arg377Trp",
        "hgvsWellDefined": "NP_751945.2:p.Arg377Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729538"
    }
  ],
  "type": "nucleotide"
}